Canonical Allele Identifier: CA394875869

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248831G>C (hg19) ; chr16:g.16154974G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154974G>C , CM000678.2:g.16154974G>C	GRCh38
NC_000016.9:g.16248831G>C , CM000678.1:g.16248831G>C	GRCh37
NC_000016.8:g.16156332G>C	NCBI36
NG_007558.2:g.73498C>G
NG_007558.3:g.73644C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.803C>G
ENST00000622290.5:c.*112C>G	ENSP00000483331.2:n.*112C>G
ENST00000205557.12:c.3940C>G MANE Select	ENSP00000205557.7:p.Arg1314Gly
ENST00000640696.1:c.754C>G	ENSP00000492197.1:p.Arg252Gly
ENST00000205557.11:c.3940C>G	ENSP00000205557.7:p.Arg1314Gly
ENST00000456970.6:c.3565C>G	ENSP00000405002.2:n.3565C>G
ENST00000576204.5:n.803C>G
ENST00000622290.4:c.*1149C>G	ENSP00000483331.1:n.*1149C>G
NM_001171.5:c.3940C>G	NP_001162.4:p.Arg1314Gly
XM_011522479.1:c.3907C>G	XP_011520781.1:p.Arg1303Gly
XM_011522480.1:c.3598C>G	XP_011520782.1:p.Arg1200Gly
XM_011522481.1:c.3598C>G	XP_011520783.1:p.Arg1200Gly
XR_932836.1:n.4238C>G
XR_932837.1:n.3976C>G
XR_932838.1:n.4039C>G
XR_933134.1:n.539-4807G>C
NM_001351800.1:c.3598C>G	NP_001338729.1:p.Arg1200Gly
NR_147784.1:n.3602C>G
XM_011522479.2:c.3907C>G	XP_011520781.1:p.Arg1303Gly
XM_011522481.3:c.3598C>G	XP_011520783.1:p.Arg1200Gly
XM_017023212.1:c.3772C>G	XP_016878701.1:p.Arg1258Gly
XM_024450261.1:c.3976C>G	XP_024306029.1:p.Arg1326Gly
XR_932836.2:n.4184C>G
XR_932837.3:n.3921C>G
XR_932838.3:n.3984C>G
NM_001171.6:c.3940C>G MANE Select	NP_001162.5:p.Arg1314Gly